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Salla disease

Salla disease (or Finnish type sialuria) is a syndrome leading to early physical impairment and mental retardation. This is due to a mutation in chromosome 6 (a recessive allele in the gene SLC17A5 the locus of which is 6q14-15). more...

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This gene codes for sialin, a lysosomal membrane protein that transports the charged sugar, N-acetylneuraminic acid (sialic acid), out of lysosomes. The mutation causes sialic acid to build up in the cells.

First described by P Aula et al. in 1979, Salla disease is named after Salla, a municipality in Finnish Lapland. It is one of nearly 40 diseases that make up the Finnish disease heritage. The majority of 100 Salla disease patients in Finland live in Salla or neighboring municipalities; there are maybe 30-40 patients living abroad, majority of them (one source says 27) in Sweden.

Individuals with Salla disease may present with nystagmus in the first months of life as well as hypotonia and cognitive impairment. The most severely impaired children do not ambulate or acquire language, but they do typically learn to walk and speak and have normal life expectancy. The MRI shows arrested or delayed myelination.

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From sea to sea - Canadian films
From TAKE ONE, 12/1/96 by and others Ken Anderlini

Vancouver

Lotus Land's usual winter drizzle would appear to have no effect on local crews, as indigenous productions continued to wrap this winter. Among the features on which principal photography has been completed is Barbecue: A Love Story. This dark comedy, set in a trailer park, follows the life of Lucky Strike, an unlucky man whose insatiable desires for slow-cooked meats and sweet women always seems to end in heartburn. Written and directed by Stacy Kirk, and produced by Robert Millar, the film starts Babz Chula and Earl Pastko. Meanwhile, looking to strike while the iron is hot, Christine Haebler, co-producer of Bruce McDonald's Hard Core Logo, which has been invited to the Sundance Film Festival, has teamed up with Calgary-based director, Gary Burns (The Suburbanators) and producer John Hazlett on Kitchen Party, a new, hip suburban comedy now wrapping. Soon to commence principal photography are Mina Shum's Drive, She Said, a romantic comedy, and Dirty, the next film from Bruce Sweeney (Live Bait), produced by Linda Guns and John Dippong. Canadian Blaze, a NFB/Start Productions feature docudrama co-directed by Teresa Marshall and Craig Berggold, promises to be one of the more unusual road movies to complete production this winter. This award-winning team has been working together for seven years and is best known for its successful Fresh Talk documentary series. The film follows Blaze's search for her missing grandmother, but she discovers that more than her grandmother is missing from the Columbia River valley--trees, plants, animals and people have been sacrificed to a nuclear age. This is a satiric look behind the idyllic postcard view of the once-mighty Columbia River, which exposes a river sterilized by runaway resource exploitation and contamination by radioactivity.

The Prairies

While the indigenous Alberta film and television industry is reeling from the impact of Premier Ralph Klein's decision to get out of the biz, the crews are staying active, and with the help of Deputy Prime Minister, Sheila Copps, some shows like the very popular North of 60 may just eke out another season. Despite deadly rumours that the show was facing its last year, it appears that it has found new life and season six is on its way, albeit this time with a different shooting schedule to accommodate the national treasury's "spend it or lose it" dictum. Production starts in January. While Calgary filmmakers John Hazlett and Gary Burns (The Suburbanators) turn to B.C. for funding for Kitchen Party, Hollywood still comes to Alberta for locations. Anthony Hopkins returned to the province (which was used as a backdrop for Legends of the Fall) with co-star Alex Baldwin for Bookworm. Shot primarily in Banff and Kananaskis parks, Sir Anthony had many adventures including a frosty dip when a plane "crashed" into an icy mountain lake. Saskatchewan also has been busy with major shoots, primarily co-productions put together with local producers. Prairie Dove, a U.K.-Canadian theatrical feature is a period Western starring Kelly McGillis (Top Gun) and Brenda Fricker (My Left Foot, Swann) put together by Shaftesbury Films of Toronto, Greenpoint in the U.K., and Heartland Motion Pictures of Regina. CFP will distribute in Canada. Saskfilm spokesperson Mark Prashun told Take One; "It's the first time we have been involved with a locally produced Western. We're really excited about this." He's also excited about the fact that Regina's new sound stage promises to stay busy, as 80 per cent of the projects shot in the province will require its services. Other Saskatchewan co-productions include The Lost Daughter, a Swiss-Canadian television mini-series starring Richard Chamberlain and directed by Quebec's Roger Cardinal. Regina's Minds Eye Films is completing the post in Edmonton's StudioPost for broadcast on WIC in February.

Winnipeg

A recent surge of documentary filmmaking in Winnipeg has led to new films about desperate poverty, the morality of murder, women's safety, and the cinema obsessions of Guy Maddin. John Paskievich (Sedna, If Only I Were an Indian...) is shooting a film about the wrenching poverty of Gypsy life in Slovakia. "It's a very hard project...lots of dirt, disease and anger," said Paskievich. He travelled to Slovakia last summer with Jeff McKay, shooting his footage on digital video for the first time. George Godwin is editing Charles Konowal's film about a Minnesota couple who travel to prison to meet one of the men convicted of killing their daughter. The family's attempt to understand the mind of a murderer is a moving look at conscience, morality and forgiveness. Paula Kelly's Personal Alarm explores the powerful social and cultural reasons why record numbers of women are arming themselves in the face of a perceived increase in violence. Finally, Noam Gonick and Laura Michalchyshyn are shooting a documentary about Guy Maddin and the making of The Twilight of the Ice Nymphs. the film is earmarked for Bravo! in April and will feature narration by Tom Waits. In conjunction with Video Pool and Videon, Winnipeg artist Murray Toews has assembled an ambitious cable TV series called Blender, giving artists free reign to create a wildly eclectic assortment of work. The seven-part series includes works from 30 Winnipeg video artists and filmmakers. Carole O'Brien's Motus Maestro, the first French-language drama to be made independently in Manitoba, was screened at the World Festival of Short Films in Huy, Belgium; Richard Condie's La salla won Best Animated Short at the Vancouver film fest. From the Winnipeg Film Group comes Good Citizen; Betty Baker, a hilarious film by performance artists Shawana Dempsey and Lori Millan about a straight-laced, do-good housewife drawn into the world of gay bars; and, finally, Lorne Bailey's Green Peril, featuring Kyle McCulloch and John Kozak, premiered in Winnipeg after five years in the making.

Toronto

Some may find Spencer Rice and Kenny Hotz's guerrilla style filmmaking to be admirable, but the young directors found themselves ostracized from every press conference and symposium during the past Toronto film fest because of their aggressive in-your-face tactics while filming their Roger & Me-meets-The Player mock documentary, Pitch. "The movie is essentially a documentary about selling a script in Toronto and Los Angeles," explains Rice from his office in Toronto. "We wanted to showcase our talents as writers, actors and directors. We wrote some sketches that were thematically related to the material so there is mock documentary mixed in with comedy and verite documentary. We've made enough documentaries which adhered to the rules, so now I can break the rules." Indeed. After producing the successful Telewhore, followed by It Don't Cost Nothing to Say Good Morning and Bloor Hawaii, Rice wasn't shy in cornering Al Pacino, Neil Simon, Arthur Hiller, Eric Stoltz, Roger Ebert, Norman Jewison, Matt Dillon and others on the do's and don'ts of pitching a script. Principal photography has just ended on Atom Egoyan's The Sweet Hereafter, based on the novel of the same name by Russell Banks. The movie is the first Egoyan has adapted from a source that is not his own. It tells the story of a lawyer (Ian Holm) who represents the members of a small community following a tragic school bus accident. The ensemble cast includes Arsinee Khanjian (of course), Sarah Polley, Bruce Greenwood, Gabrielle Rose, Tom McCamus and Maury Chaykin. Other features wrapped in Toronto include Daniel Petrie Sr.'s The Assistant with Joan Plowright and Armin Muehler-Stahl, Sidney Lumet's Critical Care with James Spader and Helen Mirren, and Dwight Little's Executive Privilege with Wesley Snipes and Diane Lane.

Montreal

There has been plenty of big-time moviemaking action in Montreal recently. Bruce Willis and Richard Gere were in town shooting scenes for their upcoming remake of The Day of the Jackal, as was Seinfeld's Jason Alexander, shooting the screen adaptation of Terrence McNally's award-winning, Love! Valour! Compassion! But while everyone's attention was caught by the Hollywood spotlight, Quebec's own luminary, Denys Arcand, was quietly putting the finishing touches to his new film, Joyeux calvaire, shot last spring in relative secrecy. With Beautiful still in development, Joyeux calvaire is the Arcand film nobody was expecting. Returning for the occasion to a simpler way of filmmaking, Arcand decided momentarily to put aside his pet project and have some fun directing this low-budget feature about two homeless men, played by Gaston Lepage and Benoit Briere. Produced for under $1-million by Cinemaginaire's Denise Robert and distributed by the newly formed company Fun Film Distribution, Joyeux calvaire may prove to be a surprising little gem when it hits Quebec screens in time for the holidays. Meanwhile, Andre Forcier is starting post-production on his new film, La comtesse de Baton Rouge, shot last October and November in Montreal and Louisiana. Once again, Forcier stays true to himself with this quirky, twisted tale of a circus's bearded lady and her road show pals. Perhaps Forcier's most complex tale to date, the story spans three generations and intertwines different time periods as the multifaceted plot unravels. Produced by Max Film's Roger Frappier, the film stars Genevieve Brouillette, fresh from her success in Jean-Marc Vallee's Liste noire. On the independent front, Michel Ouellette's Cine Qua Non is also hitting the editing table with its latest production, Cabaret neige noire. Directed by Raymond St-Jean and shot on video, Cabaret is the long-awaited screen adaptation of one of Quebec's biggest and most invigorating stage hits of the last decade. Dark and cynical, sometimes uneven, yet truly exhilarating, the cult play was an experience unto itself, and with its strangely elliptical structure, seemed to have been destined for the big screen.

Halifax

Ron Mann once joked at an Atlantic Film Festival (AFF) seminar that sooner or later, everybody would be working for television. Halifax-based director Paul Donovan, after biting the featurefilm-funding hand that feeds him in Paint Cans (his caustic comedy about Telefilm Canada), and film financing in Canada, cast his lot with the small screen, turning his attentions to a science fiction project called The Dark Zone. Two years later, with 29 countries signed on for broadcast, the first of four two-hour episodes is about to be unleashed on an unsuspecting public. An out of competition, standing-room-only screening at the 1996 AFF, accompanied by an explanatory special effects workshop, helped prepare the uninitiated. Retitled Lexx: The Dark Zone Stories, the series pilot has become the most hotly anticipated project on the East Coast. Almost 65 per cent of what is on the screen is computer generated, and not just the obvious spaceship shoot outs. The actors and some basic sets were shot on 35 mm against blue and green screens, in a waterfront studio in Halifax which once housed the Volvo car manufacturing plant. State-of-the-art computer graphics firms in Halifax, Toronto and Berlin then laboured over the intricacies of each shot. William Shatner's CORE Digital, which provided the computer work on Shatner's Tekwar series, is chiefly responsible for executing the graphics. Many of the storyboard drawings come from the pen of Alex Busby, the award-winning director of Folk Art Found Me. The look of Lexx resists easy definition. It combines the monumental scale of Orson Welles's The Trial with the imaginative low-budget energy of Britain's long-running sci-fifave, Doctor Who. Unique organic visual cues imply a future that includes the genetically manipulated. For example, the series opens with a spectacular squadron of scorpion attack fighters attempting to bring down a battle cruiser that looks like a giant spider at the centre of a huge, rococo web. Donovan has flirted with science fiction before (Def-Con4, Tomcat and Switched in Time), but the television format seems to have liberated both his imagination and his personal cinematic style. Normally a conservative storyteller, Donovan's innovative designs, his dark, wickedly funny sense of humour, and his penchant for fast-paced, pulpy narratives have found full expression in Lexx. The storyline resembles the linearity of a video game rather than the traditional dramatic structure. Rumours have been flying in Halifax that 20 more hours are about to be confirmed, to begin production in the winter of 1997. At this rate, Donovan's fascination with the little screen will soon outstrip, by volume alone, his entire output on the big screen. Mainstream films like George's Island and Buried on Sunday saw Donovan delivering what was expected--gentle, regional stories that showed him playing someone else's game. With Lexx, he is writing his own rules in a cosmos of his own invention. In other news, winner of the most bizarre moment in the business goes to the late summer wrap party for James Cameron's The Titanic. Someone spiked the fish chowder with Angel Dust, sending 80 per cent of the cast and crew, including Cameron and star Barbarea Samuels and Wayne Grigsby, to the Dartmouth General Hospital for observation. The epic continued shooting interiors in Mexico and will be released this summer, barring any nasty flashbacks.

COPYRIGHT 1996 Canadian Independent Film & Television Publishing Association
COPYRIGHT 2004 Gale Group

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